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rs80359369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AACAT) 6 BRCA2 variant considered pathogenic for breast cancer
(AACAT;AACAT) 0 common in clinvar


Make rs80359369(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337422
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359369
ebirs80359369
HLIrs80359369
Exacrs80359369
Varsomers80359369
Maprs80359369
PheGenIrs80359369
hapmaprs80359369
1000 genomesrs80359369
hgdprs80359369
ensemblrs80359369
gopubmedrs80359369
geneviewrs80359369
scholarrs80359369
googlers80359369
pharmgkbrs80359369
gwascentralrs80359369
openSNPrs80359369
23andMers80359369
23andMe allrs80359369
SNP Nexus

SNPshotrs80359369
SNPdbers80359369
MSV3drs80359369
GWAS Ctlgrs80359369
Max Magnitude6
rs80359369, also known as 3295del5, c.3067_3071delAACAT and p.Asn1023_Ile1024?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359369(;)
Alt rs80359369(;)
Reference rs80359369(AACAT;AACAT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911559_32911563delAACAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113130.1,